SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS557456591 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557461059 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557462297 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS557463209 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS55748088 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Junctional epidermolysis bullosa with pyloric atresia
RS557483957 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS55751949 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, PHKG2-related disorder
RS557521971 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Ovarian cancer
RS557526069 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS55752621 EHHADH Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS557527090 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS55752843 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS557529420 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS557533784 MTOR Health Risk Conflicting classifications of pathogenicity —
RS557535632 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS557539356 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS557540994 SKIC3 Health Risk Conflicting classifications of pathogenicity SKIC3-related disorder, SKIC3-related disorder
RS557545474 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS55755457 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS557559653 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Meckel syndrome
RS557559740 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Seizures
RS55756709 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS557577836 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS557578629 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS557581298 SLC16A1 Health Risk Pathogenic SLC16A1-related disorder, SLC16A1-related disorder
RS557590325 CD46 Health Risk Conflicting classifications of pathogenicity —
RS557592503 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS557596726 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS55759912 TEX14 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 23, Spermatogenic failure 23
RS55760494 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS55760835 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS557609728 RBP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557611780 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS55761944 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS557620034 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 84A
RS557621248 FAM186B Health Risk Conflicting classifications of pathogenicity —
RS557622245 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS55762754 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS557627895 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS557636016 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS55763607 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS557640338 NBEAL2 Health Risk Conflicting classifications of pathogenicity NBEAL2-related disorder, NBEAL2-related disorder
RS557643577 PARD3 Health Risk risk factor Neural tube defect, Neural tube defect
RS55765051 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Hydrolethalus syndrome 2
RS557659943 UMOD Health Risk Conflicting classifications of pathogenicity Kidney disorder, Familial juvenile hyperuricemic nephropathy type 1
RS557669708 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS557670363 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS557671408 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS55767801 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS55767910 TAP1 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, TAP1-related disorder
RS557681960 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS557685746 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS557687418 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557688789 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS557690276 MCPH1 Health Risk Likely pathogenic MCPH1-related disorder, MCPH1-related disorder
RS557699482 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS55770810 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS557709223 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS557710295 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS55771538 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, CYP1B1-related glaucoma with or without anterior segment dysgenesis
RS557732922 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS557734046 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55773834 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS557739576 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS557741620 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, DCAF17-related disorder
RS557741807 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS557742097 NSUN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557746506 TMEM94 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS557754125 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS55775473 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS557760409 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS557762861 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
RS557771609 CFAP53 Health Risk Likely pathogenic Heterotaxy, Heterotaxy
RS557772454 SLC12A3 Health Risk Likely pathogenic —
RS557773336 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS55777503 PRKN Health Risk Pathogenic Young-onset Parkinson disease, Autosomal recessive juvenile Parkinson disease 2
RS557777623 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS557789686 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS557790186 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, Malignant tumor of esophagus
RS557796016 MSH4 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS55779802 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS557803591 KCNN4 Health Risk Conflicting classifications of pathogenicity KCNN4-related disorder, Inborn genetic diseases
RS557807920 IFT43 Health Risk Conflicting classifications of pathogenicity —
RS557813179 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Roberts-SC phocomelia syndrome
RS55782189 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS557822238 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
RS557830930 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS557834060 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557835636 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS557836108 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa
RS557838138 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557849165 MYH3 Health Risk Pathogenic/Likely pathogenic Spondylocarpotarsal synostosis syndrome, Contractures
RS557853306 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases
RS55785527 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS557865832 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS557867164 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS557868420 KCNH5 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS557870969 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS557873884 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, MYLK-related disorder
RS557875547 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
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